Researchers have recently described novel associations of genetic variants in the ferroportin gene with low iron status in adolescent girls with iron deficiency anemia (IDA) relative to participants without anemia in India. The findings were published recently in Cureus.

To determine the role of genetic variation in iron status of Indian adolescent girls, the investigators conducted a candidate gene case-control association study. A total of 242 participants, 16 to 19 years of age, were recruited from 2 schools in Hyderabad, India.

Baseline iron status and iron bio-status parameters were measured and used to divide the participants into the case (IDA; n=132) group and control group (n=110). Socio-demographic information, menstrual history, family history of anemia, and clinical parameters were collected via questionnaire. Genotypes of single nucleotide polymorphisms (SNPs) previously shown to be involved in iron metabolism (rs602662, rs1049296, rs1805051, rs855791, rs224589, and rs11568350) were evaluated using polymerase chain reaction-restriction fragment length polymorphism.

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Across the IDA and control groups, no differences were observed in age (mean ± standard deviation, 17.6 ± 1.6 and 17.3 ± 1.4 years, respectively) or body mass index (19.9 ± 4 and 19.2 ± 3.2 kg/m2, respectively). Statistically significant differences were observed for all hematological parameters between the IDA and control groups (P <.05 for all).  

No significant differences in the distributions of genotypes and allele frequencies of the SNPs between the IDA and control groups. Within the IDA group, individuals with the heterozygous GA genotype for rs602662 had a higher hemoglobin concentration (P =.02) and packed cell volume (P =.007) than individuals with the homozygous GG genotype.

For rs11568350, individuals with the GT and TT genotypes had lower hemoglobin concentrations (P =.02 and P <.001, respectively) relative to individuals with the GG genotype. Those with the GT genotype also had lower mean corpuscular hemoglobin relative to individuals with the GG genotype (P =.01), and those with the TT genotype had decreased packed cell volume (P =.005) compared with individuals with the GG genotype. The other genetic variants (rs1049296, rs1805051, rs224589, and rs855791) were not associated with hematological parameters. Within the control group, no associations with hematological parameters were observed.

Limitations of the study included the single-center design and the limited sample size. “[Some] of the associations between polymorphisms and iron status previously reported for other populations were not reproduced in our study. This variation may be due to heterogeneity in genetic makeup between populations; population-specific genome studies should be conducted rather than inferring genetic data across populations,” the authors wrote. “Taken together, our study highlights a link between IDA and genetic polymorphisms in a specific adolescent girl population.”


Varikuti SR, Parasannavar DJ, Rajkumar H, Bhukya T, Satyanarayana U, Kumar M. The role of gene variants in the iron metabolism of anemic adolescent girls. Cureus. 2021;13(12):e20128. doi:10.7759/cureus.20128